ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.569G>A (p.Arg190His)

dbSNP: rs533072942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653134 SCV001871321 uncertain significance not provided 2021-08-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001653134 SCV002362687 benign not provided 2023-03-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146226 SCV003831358 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2022-04-13 criteria provided, single submitter clinical testing

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